A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732074



Internal ID9966392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51874701..51880897hg38UCSC Ensembl
Outerchr6:51739499..51745695hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386197
hg196197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795676, essv6963757, essv6715546, essv6918847, essv6761120, essv6736969, essv6765034, essv6754555, essv6891598, essv6969393, essv6729009, essv6757408, essv6762654, essv6751608, essv6875739, essv6955261, essv6974804, essv6680412, essv6903737, essv6703920, essv6667575, essv6911359, essv6739984, essv6774606, essv6734366, essv6745947, essv6923092, essv6934743, essv6748761
SamplesSSM007, SSM027, SSM092, SSM013, SSM006, SSM055, SSM033, SSM043, SSM057, SSM001, SSM050, SSM062, SSM056, SSM017, SSM009, SSM066, SSM028, SSM029, SSM030, SSM021, SSM002, SSM063, SSM052, SSM015, SSM049, SSM008, SSM018, SSM058, SSM059
Known GenesPKHD1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2732074
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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